Gene functional networks and autism spectrum characteristics in young people with intellectual disability: a dimensional phenotyping study.

ABSTRACT:

Background

The relationships between specific genetic aetiology and phenotype in neurodevelopmental disorders are complex and hotly contested. Genes associated with intellectual disability (ID) can be grouped into networks according to gene function. This study explored whether individuals with ID show differences in autism spectrum characteristics (ASC), depending on the functional network membership of their rare, pathogenic de novo genetic variants.

Methods

Children and young people with ID of known genetic origin were allocated to two broad functional network groups: synaptic physiology (n = 29) or chromatin regulation (n = 23). We applied principle components analysis to the Social Responsiveness Scale to map the structure of ASC in this population and identified three

SUBMITTER: Brkic D 

PROVIDER: S-EPMC7731560 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature